Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41276445
rs41276445
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C3809609
Disease:
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.800 GeneticVariation UNIPROT Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
dbSNP: rs41276445
rs41276445
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C3809609
Disease:
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		G 0.800 CausalMutation CLINVAR
dbSNP: rs759274321
rs759274321
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C3554018
Disease:
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.710 GeneticVariation BEFREE We studied five Pakistani families with SANDD and characterized a new missense variant p.(A376V) in CACNA1D in one family, and further characterized the founder variant p.(G403_V404insG) in four additional pedigrees. 30498240 2019
dbSNP: rs759274321
rs759274321
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C3554018
Disease:
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		T 0.710 CausalMutation CLINVAR
dbSNP: rs17237537
rs17237537
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2358740
rs2358740
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0036341
Disease:
Schizophrenia 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
dbSNP: rs2633725
rs2633725
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0037369
Disease:
Smoking 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
dbSNP: rs3774573
rs3774573
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs3821843
rs3821843
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0871470
Disease:
Systolic Pressure 		G 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs3821843
rs3821843
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3821843
rs3821843
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6445597
rs6445597
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs719260
rs719260
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7340705
rs7340705
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs793202
rs793202
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9821489
rs9821489
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs12715461
rs12715461
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0020538
Disease:
Hypertensive disease 		A 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs13076366
rs13076366
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs185334926
rs185334926
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0021603
Disease:
Sleep Initiation and Maintenance Disorders 		T 0.700 GeneticVariation GWASCAT Genome-wide analysis of insomnia disorder. 29520036 2018
dbSNP: rs2306866
rs2306866
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs3774427
rs3774427
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0428883
Disease:
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs3774427
rs3774427
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs3774427
rs3774427
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0428883
Disease:
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs3774427
rs3774427
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0428886
Disease:
Mean blood pressure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs3774427
rs3774427
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
CUI: C0020538
Disease:
Hypertensive disease 		C 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018